A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247084



Internal ID21694593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209577317..209577317hg38UCSC Ensembl
chr1:209750662..209750662hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726859
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17247084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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